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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-226881976-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226881976&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PSEN2",
"hgnc_id": 9509,
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_000447.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288674",
"hgnc_id": null,
"hgvs_c": "n.69T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000366779.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000447.3",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366783.8",
"protein_coding": true,
"protein_id": "NP_000438.2",
"strand": true,
"transcript": "NM_000447.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366783.8",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000447.3",
"protein_coding": true,
"protein_id": "ENSP00000355747.3",
"strand": true,
"transcript": "ENST00000366783.8",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366782.6",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355746.2",
"strand": true,
"transcript": "ENST00000366782.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 9497,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366779.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288674",
"hgvs_c": "n.69T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000355741.2",
"strand": true,
"transcript": "ENST00000366779.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1584,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000676945.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504433.1",
"strand": true,
"transcript": "ENST00000676945.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 478,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1437,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900076.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570135.1",
"strand": true,
"transcript": "ENST00000900076.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 471,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5158,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1416,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000677599.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503673.1",
"strand": true,
"transcript": "ENST00000677599.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2106,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001437537.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424466.1",
"strand": true,
"transcript": "NM_001437537.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000524196.6",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429036.2",
"strand": true,
"transcript": "ENST00000524196.6",
"transcript_support_level": 4
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 330,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000626989.3",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486498.2",
"strand": true,
"transcript": "ENST00000626989.3",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 357,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000677414.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503116.1",
"strand": true,
"transcript": "ENST00000677414.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 1916,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679088.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504727.1",
"strand": true,
"transcript": "ENST00000679088.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 348,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900066.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570125.1",
"strand": true,
"transcript": "ENST00000900066.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 577,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900069.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570128.1",
"strand": true,
"transcript": "ENST00000900069.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900071.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570130.1",
"strand": true,
"transcript": "ENST00000900071.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900073.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570132.1",
"strand": true,
"transcript": "ENST00000900073.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900074.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570133.1",
"strand": true,
"transcript": "ENST00000900074.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2633,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900075.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570134.1",
"strand": true,
"transcript": "ENST00000900075.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900077.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570136.1",
"strand": true,
"transcript": "ENST00000900077.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2672,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940855.1",
"gene_hgnc_id": 9509,
"gene_symbol": "PSEN2",
"hgvs_c": "c.69T>G",
"hgvs_p": "p.Ala23Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610914.1",
"strand": true,
"transcript": "ENST00000940855.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 854,
"cds_end": null,
"cds_length": 1347,
"cds_start": 69,
"consequences": [
"synonymous_variant"
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